Eyes are a window to the soul, and the colon, too

This composite drawing shows a freckle on the retina of a patient with colon polyp syndrome.

By Alfred Thigpen, Special to The Washington Post

Posted March 07, 2012, at 8:13 a.m.

I tore my cornea with a thumbnail 25 years ago. I was lunging for a basketball — with my girlfriend watching — and I felt like a klutz. All was repaired, but on doctor’s orders I’ve gotten regular, thorough eye examinations ever since.

It was during one of these last summer that retina specialist Neal Adams caught me totally off guard. After examining the back of my eyes for a suspiciously long time, he advised me to schedule a colonoscopy.

A what?

“My colon has something to do with my eyes?” I asked.

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The doctor told me he had found “freckles” on my retinas. “When the freckle has a certain appearance and is found in a certain number, evidence shows that it’s highly associated with a specific syndrome of colon polyps,” he said.

Adams explained that the likelihood of cancer was low but that it was better to be safe than sorry. “It’s for your own peace of mind,” he said reassuringly.

I located a gastroenterologist that afternoon.

This eyeball-colon correlation was news to me and everybody I mentioned it to. But, as Adams later told me, it’s been known for a long time.

Richard Cabot, a physician at Massachusetts General Hospital, first reported an association between colon cancer and a certain type of retinal pigmentation in 1935.

“The medical literature remained largely silent on this association until 1980, when Drs. Norman Blair and Clement Trempe described the association between colon polyps and colon cancer and this specific back-of-the-eye freckle,” continued Adams, who is editor in chief of the medical journal Eye Reports. They named the freckle CHRPE (pronounced “chirpy,” an abbreviation for “congenital hypertrophy of the retinal pigment epithelium”).

A later study found that CHRPE has a “statistically significant” correlation with hereditary colon polyps known as familial adenomatous polyposis, or FAP. It may be that the freckles are caused by the same genetic mutation that produces the polyps.

A 2010 study in the American Journal of Gastroenterology concluded that patients with such freckles should be referred for colonoscopies.

The gastroenterologist I went to did not acknowledge any connection between retinal freckles and colon disease. But he did say that at 63, I was overdue for a colonoscopy, and he worked me into his schedule within a week.

During the procedure, he located and removed three sessile (or flat) polyps, each about the size of a pencil eraser. He sent them off to be tested for malignancy and told me it would take a week to get the results.

Rather than fret about the possibility of a positive from the lab, I focused on finding out more about what still seemed to be a peculiar way to start a diagnosis. I asked Adams more questions.

“When we look in back of the eye at the retina, we can find signs that may help us identify many disorders — common ones like high blood pressure and diabetes, rare genetic disorders and even life-threatening cancers.” These could include lung cancer, breast cancer, pancreatic cancer, brain cancer, lymphoma, multiple myeloma and more, he said.

Adams told me he once diagnosed early-stage leukemia in an otherwise healthy person by noting blood spots in the patient’s retina. Another patient’s suspiciously inflamed retinas led him to run a test called an electroretinogram, which found an abnormality that was strongly suggestive of a malignancy. He sent the patient to an oncologist, who diagnosed ovarian cancer.

As Gregory Wolfe, chair of the American Optometric Association’s health promotion committee, put it, the eyes aren’t just the window to the soul. “The eyes can be the oracles of a variety of systemic conditions,” he said.

And more than the eyes are involved. As many of us have read, periodontal or gum disease is associated with heart disease. But few of us are aware, Wolfe and Adams noted, of the associations between periodontal disease and osteoporosis or even Alzheimer’s disease. Even though people are becoming increasingly aware of the interrelatedness of diseases, Wolfe said, the public still tends to see fields such as dentistry, eye health and gastroenterology as essentially distinct. “It’s really important to change this mind-set to a more holistic approach,” he said.

A recent study by Consumer Reports found that Americans are growing increasingly likely to put off or skip important diagnostic tests, often for financial reasons. No one is suggesting that an eye exam is any substitute for a colonoscopy or that a dental checkup replaces an EKG. But what’s disturbing is that Americans may be increasingly skipping both, with dangerous consequences.

My polyp tests came back from the lab. Two were benign; the third, however, was a tubular adenoma, often called a precancerous polyp.

Interestingly, my polyps were not the kind associated with FAP, the syndrome my ophthalmologist had been concerned about. Nevertheless, the advice to get the colonoscopy was worthwhile, because colon cancer almost always starts out as a benign polyp gone wrong. By removing the polyps, I’d headed off that possibility.

By nature, I’m not an optimist. But I caught a break because a clumsy basketball move 25 years ago forced me to keep an eye on my eyes. And I think that’s an insight worth sharing.